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MCADD = Medium Chain Acyl-CoA Dehydrogenase Deficiency


Gavin's MCADD Story

Gavin is a fraternal twin to Logan and was born at 34 weeks gestation on June 4, 2007.  From the begining he has had many problems but alot of them were put off as "prematurity related".  He spent almost 3 weeks in the NICU with his twin for temperature instability, feeding problems and low blood sugar as well as low weight gain.

Once he was home from the NICU we were told he was a very healthy baby however I argued with them about that.

In october 2007 he got his first cold which turned into his first (double) ear infection and things went downhill from there.  He had had constant ear infections and often refused bottles.  

We found out Gavin had the disorder in May 2008 when he was 11 months (to the day).  He had been sick with a cold and hadn't wanted to eat the day before. We woke up that morning to find him unresponsive.  He was rushed to the PICU at the childrens hospital and they found his sugar to be dangerously low... 19!

He was in PICU for 10 days and now, as a result of his sugar being so low and the seizures that followed, he has moderate to severe hearing loss in both ears.  
At the time of their birth, MCAD wasn't a manditory screening in Kentucky.  From what I have been told, it didn't become manditory until about 3 weeks AFTER my twins were born. At that time they had already had their newborn screenings (and we were told they were good). 

From the begining I knew something was different or wrong with Gavin. 
He had severe projectile throwing up from birth.  One doctor said he has acid reflux and gave him Zantac. Zantac did nothing for my baby.  He then perscribed Prilosec and suggested adding rice cereal to his bottles to thicken the feeds and to give him 4 oz every 2 hours (which, looking back now, I believe that little piece of advice-- to feed him every 2 hrs during the day, 4 hrs at night-- is what had kept him thriving thus far!)

Again, that medication did nothing but hurt our pockets (it was a compound medication and insurance would not cover it).  I was getting aggravated because my baby then developed "colic" that seemed to happen 24/7.  He would scream, grunt, cry, and projectile vomit all day and act like he was in excrutiating pain. 

I switched doctors and he was referred to a pediatric gastrointerologist who did a  endoscopy to see if he had a milk allergy (he was at the time on NeoSure 22cal formula since he was premature and low weight). 

The results came back that he had the milk allergy so he was immediatly switched to Similic Alimentum with rice cereal still added for thickness.  His fussiness went away and the severity of the projectile throwing up did too but he still threw up alot, especially after formula feedings (I noticed it more with his formula feedings verses baby food).

Then, in February when he was 8 months old he had a real bad cold and ear infection (which he had had constantly from october 2007 on) and refused to eat much. The next day I woke up and he was limp and floppy and hard to wake up. 

I took him to the ER and they said he was dehydrated and his sugar was
"a little low" due to not eating much.  They gave him IV fluids with sugar in it and he perked right up. They sent us home. On March 17th he received tubes in his ears to help the ear infections.  However, on May 4, 2008 (11 months old to the day) we had a re-run of the incident that had happened nearly 3 months earlier... just worse, and it almost cost our baby boy his life. 
On May 3 Gavin didn't want to eat very much, but he would drink water.  We went to bed that night and in the middle of the night I heard Gavin making what sounded like extended moans (which we later found out that he was probably having seizures).  I went in to check on him and he looked fine... he was laying on his back, all stretched out sleeping. 

My husband got up around 7am with our other son, Gavin's twin (fraternal).  Gavin whined when he went in there but didnt act like he was ready to wake up so I got up and got Gavin. He layed his head on my shoulder so I brought him to bed with me and told my Husband that I would be downstairs when Gavin woke up... thinking it'd be 30 mins or so. 

2.5 hrs passed and I had fell asleep.  I woke up suddenly and  Gavin was pale and VERY sweaty but cold at the same time.  My pillow case was soaked where he was laying on it, so was my sheets.  I yelled for my husband.  While he was coming up the stairs I was moving Gavin, trying to get him to wake up.  It was at that time I noticed his lips were a pale blue color but he was breathing, just VERY shallow. 

I sat on the edge of my bed, holding him. My husband walked in and asked "whats wrong with Gavin?" I guess he knew by the way I was holding him.  I told him I didnt know and showed him his limp body.  My husband picked up my cell phone that was on my night stand and called 911. 

The ambulance arrived and the lady told us that he "looked fine, just a bit sleepy" and had us sign the papers that said they were not going to transport him. While my husband was signing those i told him to get the car seats ready that we were taking him as soon as they left.  The ambulance lady picked Gavin up and sat him on her knee... his head and shoulders fell back and he was so limp.  Thats when she realized somthin wasn't right and said to her partner to get the oximeter (until that point they had done
nothing, just LOOKED at my baby. They didn't check his heartrate or anything).  His o2 levels were 79.  She told me to get my shoes on and they needed to take him to the truck and get him on oxygen and take him to the ER and my husband could follow.

Everything happened so fast after that.  We were in the ER at our local emergency room and the doctor came in and shut the door behind him. 
I knew something was wrong.  He had a look of urgency on his face.

He asked if there was any one in the household with diabetes.  We told him no. He asked if there was any way Gavin could have got ahold of diabetes medication.  We told him no.  He then told us that they had a ambulance from the Childrens hospital on its way to transport him beause his sugars were so low (38 at the time) and that this had happened a few months ago he wasn't taking any chances, that Gavin was a very sick baby and needed medical attention that only a childrens hospital could give him (His pediatrician is affiliated with the childrens hospital so we are familiar with it, it is also where they were born and in the NICU).

They did a spinal tap and redid his sugar and found that it had dropped even more... dropped to 19. They canceled the ambulance and had him immediatly taken by helicopter.  When we got to the Children's hospital he was in the PICU hooked up to more wires and IV's than my heart could handle and so many doctors had come in to talk to us.  They took alot of blood and gave him a feeding tube. 
My baby did not look or act the same.  He was so weak and when he would open his eyes and look at me he just looked so helpless.  He slowly started to get better.  One of his labs came back that he had "Adenovirus" but they said that virus alone should not have caused his body THAT much stress. 
10 days later we found out that he had this disorder. It took many sets of labs tests. One set came back abnormal so they sent it to the Mayo Clinic where they confirmed MCADD.  We were told that we are lucky he is alive today and that if we hadn't given him the feedings every 2 hours during the day and 4 hrs at night when he was smaller he wouldnt have made it this far.  

Gavin is now almost 16 months old and 1 week ago we found out he has moderate to severe hearing loss in both ears, probably due to his sugar being so low and the seizures they think he had during the night. 

Despite all that, he is a happy, healthy energetic little boy and so full of life.  He is on Carnitor 4 times a day which has helped with his throwing up.  We have a nutritionist who is working on getting a dietary plan to fit his needs. 

He is on a low-fat / high carb & high Protein, milk and dairy free (due to milk allergy) diet.  In times of illness when he doesnt want to eat, we have to mix corn starch in Pedialyte and offer it to him almost repeaditly.  Just looking at Gavin you would never know there is a potentially silent killer in his body... but that is how MCADD goes. 

His twin does NOT have the disorder. Why it has affected Gavin and not his twin we will never know, but I am so thankful that something told me almost immediatly following his birth that something was not right.  I was more aware and cautious of things.  I am also glad that in our state MCADD is a manditory state newborn screening now.

I just wish it had always been that way.





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